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Test ID RSCGP Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies


Ordering Guidance


A next-generation sequencing (NGS) panel of the 6 genes associated with Bartter syndrome, a rare renal salt-wasting disorder, is available. See RBART / Bartter Syndrome Gene Panel, Varies. It is inappropriate to order both RBART and this test on the same patient because the genes on the RBART panel are included on this panel.

 

Testing for CASR is available individually. See CASRG / CASR Full Gene Sequencing with Deletion/Duplication, Varies.

 

With a few exceptions, this panel is focused on conditions where the primary phenotype is impaired osmoregulation that may result in secondary extrarenal symptoms. If interested in testing for syndromic disorders that are associated with kidney disease but feature broader clinical phenotypes and multisystem involvement, see NEPHP / Comprehensive Nephrology Gene Panel, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations/variants testing) is available for the genes on this panel. See FMTT / Familial Mutation, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information, see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1.New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Hereditary Renal Genetic Testing Patient Information (T918)

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance

 

Establishing a diagnosis for a variety of hereditary conditions associated with renal salt wasting or abnormal salt retention; impaired acid-base, water, and calcium homeostasis; or kidney crystallization

Method Name

Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)

Reporting Name

Renal Stone/Electrolyte Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Dehydration, certain medications, diet, and digestive disorders are common factors that can increase the risk for electrolyte imbalances or the development of kidney stones. However, renal tubular loss of electrolytes or protein, or the development of kidney calculi can also signal underlying metabolic, endocrine, or renal tubular dysfunction that is genetic in origin, especially when symptoms present in utero, infancy, or adolescence.

 

When the presence or severity of electrolyte imbalance or kidney stones observed in a patient cannot be explained by acquired causes or there are multiple cases clustered within a family, genetic testing for the inherited causes of kidney or extrarenal impairment of osmoregulation may be considered. This gene panel assesses 72 genes associated with heritable causes of electrolyte imbalance and kidney stones. A thorough clinical and laboratory evaluation prior to genetic testing is often essential for correct genetic diagnosis. While many symptoms associated with kidney stone formation and/or electrolyte imbalance may overlap, most disorders are identifiable by distinct clinical features and a biochemical "signature" established by plasma electrolyte profiles, blood volume status, urine biochemistries, and kidney stone analysis.

 

Genes on this panel are associated with disorders of:

1) Renal salt wasting (Gitelman and Bartter syndromes, pseudohypoaldosteronism type 1, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, and glucocorticoid remediable aldosteronism)

2) Salt retention (pseudohypoaldosteronism type 2, Liddle syndrome, familial hyperaldosteronism types 1 and 3)

3) Acid-base homeostasis (proximal or distal renal tubular acidosis)

4) Water handling (nephrogenic diabetes insipidus, neurohypophyseal diabetes insipidus, and nephrogenic syndrome of inappropriate antidiuresis)

5) Calcium homeostasis (familial hypocalciuric hypercalcemia, autosomal dominant hypocalcemia), parathyroid function, and vitamin D metabolism

6) Kidney crystallization inhibitors, such as magnesium, uromodulin, and pyrophosphate

7) Kidney crystallization promoters such as oxalate (calcium oxalate nephrolithiasis), phosphate (hypophosphatasia, Dent disease, familial tumoral calcinosis), urate (Lesch-Nyhan syndrome, xanthinuria), cystine (cystinuria), and 2,8-dihydroxyadenine (adenine phosphoribosyltransferase deficiency)

 

This panel also includes genes associated with 3 syndromic disorders for which kidney stones or involvement have been reported: Wilson disease (low-molecular weight proteinuria, microscopic hematuria, and Fanconi syndrome that can result in kidney failure); amelogenesis imperfecta, type IG ("enamel-renal syndrome"; nephrocalcinosis); and Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (MODY; nephrocalcinosis).

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

2. Singh P, Harris PC, Sas DJ, Lieske JC: The genetics of kidney stone disease and nephrocalcinosis. Nat Rev Nephrol. 2022 Apr;18(4):224-240

Day(s) Performed

Varies

Report Available

28 to 42 days

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81404 x 4

81405 x 2

81406 x 8

81407 x 2

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
RSCGP Renal Stone/Electrolyte Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
618129 Test Description 62364-5
618130 Specimen 31208-2
618131 Source 31208-2
618132 Result Summary 50397-9
618133 Result 82939-0
618134 Interpretation 69047-9
618135 Additional Results In Process
618136 Resources 99622-3
618137 Additional Information 48767-8
618138 Method 85069-3
618139 Genes Analyzed 48018-6
618140 Disclaimer 62364-5
618141 Released By 18771-6